Xeroderma Pigmentosum, Variant Type malady

Genetic diseases, Rare diseases, Skin diseases, Fetal diseases, Cancer diseases categories

Aliases & Classifications for Xeroderma Pigmentosum, Variant Type

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46OMIM, 8Disease Ontology, 9diseasecard, 64Wikipedia, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 10DISEASES, 44Novoseek, 48Orphanet, 22GTR, 61UMLS, 33MeSH, 34MESH via Orphanet, 26ICD10 via Orphanet, 62UMLS via Orphanet, 25ICD10
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Aliases & Descriptions for Xeroderma Pigmentosum, Variant Type:

Name: Xeroderma Pigmentosum, Variant Type 46 9 42 61
Xeroderma Pigmentosum 8 64 19 42 20 21 10 44
Xeroderma Pigmentosum Variant 48 22
Xpv 42 48
Xp 42 21
Xeroderma Pigmentosum with Normal Dna Repair Rates 42
Photosensitivity with Defective Dna Synthesis 42
De Sanctis-Cacchione Syndrome 61
Desanctis-Cacchione Syndrome 21
Xeroderma Pigmentosa 42


Characteristics (Orphanet epidemiological data):

xeroderma pigmentosum variant:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult

External Ids:

OMIM46 278750
Disease Ontology8 DOID:0050427
MeSH33 D014983
Orphanet48 90342
MESH via Orphanet34 C536766
ICD10 via Orphanet26 Q82.1
UMLS via Orphanet62 C0432328, C1848410
ICD1025 Q82.1

Summaries for Xeroderma Pigmentosum, Variant Type

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OMIM:46 Xeroderma pigmentosum is an autosomal recessive disorder characterized by increased sensitivity to sunlight and defects... (278750) more...

MalaCards based summary: Xeroderma Pigmentosum, Variant Type, also known as xeroderma pigmentosum, is related to cockayne syndrome and xeroderma pigmentosum, group a, and has symptoms including cutaneous photosensitivity, poikiloderma and freckling. An important gene associated with Xeroderma Pigmentosum, Variant Type is POLH (polymerase (DNA directed), eta), and among its related pathways are Chks in Checkpoint Regulation and Global Genomic NER (GG-NER). The compound cisplatin have been mentioned in the context of this disorder. Affiliated tissues include skin and eye, and related mouse phenotypes are integument and tumorigenesis.

Disease Ontology:8 An autosomal recessive disease that is characterized by a deficiency in the ability to repair ultraviolet damage that has material basis in autosomal recessive inheritance of dna repair.

NIH Rare Diseases:42 Xeroderma pigmentosum (xp) is an inherited condition characterized by an extreme sensitivity to ultraviolet (uv) rays from sunlight. this condition mostly affects the eyes and areas of skin exposed to the sun. some affected individuals also have problems involving the nervous system. symptoms typically develop in infancy or early childhood. xeroderma pigmentosum is caused by mutations in genes that are involved in repairing damaged dna. inherited mutations in at least eight genes have been identified. the condition is inherited in an autosomal recessive manner. last updated: 10/21/2010

Genetics Home Reference:21 Xeroderma pigmentosum, which is commonly known as XP, is an inherited condition characterized by an extreme sensitivity to ultraviolet (UV) rays from sunlight. This condition mostly affects the eyes and areas of skin exposed to the sun. Some affected individuals also have problems involving the nervous system.

Wikipedia:64 Xeroderma pigmentosum, or XP, is an autosomal recessive genetic disorder of DNA repair in which the... more...

GeneReviews summary for xp

Related Diseases for Xeroderma Pigmentosum, Variant Type

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Diseases in the Xeroderma Pigmentosum, Variant Type family:

Xeroderma Pigmentosum, Type 2 Xeroderma Pigmentosum, Type 9
Xpa-Related Xeroderma Pigmentosum Ercc3-Related Xeroderma Pigmentosum
Xpc-Related Xeroderma Pigmentosum Ercc2-Related Xeroderma Pigmentosum
Ddb2-Related Xeroderma Pigmentosum Ercc4-Related Xeroderma Pigmentosum
Ercc5-Related Xeroderma Pigmentosum Polh-Related Xeroderma Pigmentosum
Ercc1-Related Xeroderma Pigmentosum

Diseases related to Xeroderma Pigmentosum, Variant Type via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 115)
idRelated DiseaseScoreTop Affiliating Genes
1cockayne syndrome31.4ERCC6, XPC
2xeroderma pigmentosum, group a11.2
3xeroderma pigmentosum, group c11.1
4xeroderma pigmentosum, group d11.0
5xeroderma pigmentosum, group g11.0
7xeroderma pigmentosum, group f10.9
9xeroderma pigmentosum, group b10.8
10basal cell carcinoma10.8
11xeroderma pigmentosum, group e, ddb-negative subtype10.7
12lung cancer10.7
13xeroderma pigmentosum-cockayne syndrome complex10.7
16prostate cancer10.6
17breast cancer10.6
18de sanctis-cacchione syndrome10.6
20xeroderma pigmentosum, type 910.6
22cockayne syndrome, type a10.5
23herpes simplex10.5
24ercc1-related xeroderma pigmentosum10.5
25chromosome xp deletion10.5
29neurologic diseases10.4
30xeroderma pigmentosum, type 210.4
31xpa-related xeroderma pigmentosum10.4
32ercc3-related xeroderma pigmentosum10.4
33xpc-related xeroderma pigmentosum10.4
34ercc2-related xeroderma pigmentosum10.4
35ddb2-related xeroderma pigmentosum10.4
36ercc4-related xeroderma pigmentosum10.4
37ercc5-related xeroderma pigmentosum10.4
38polh-related xeroderma pigmentosum10.4
39bloom syndrome10.4
40esophageal cancer10.4
41uv-sensitive syndrome10.4
45chondrodysplasia punctata10.2
47colorectal cancer10.2
48basal cell nevus syndrome10.2
49dyschromatosis symmetrica hereditaria10.2
50hepatocellular carcinoma10.2

Graphical network of the top 20 diseases related to Xeroderma Pigmentosum, Variant Type:

Diseases related to xeroderma pigmentosum, variant type

Symptoms for Xeroderma Pigmentosum, Variant Type

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Symptoms by clinical synopsis from OMIM:


Clinical features from OMIM:



 48 (show all 10)
  • skin photosensitivity
  • abnormal pigmentary skin changes/skin pigmentation anomalies
  • excessive freckling
  • telangiectasic erythema/poikiloderma
  • warts/papillomas
  • autosomal recessive inheritance
  • skin hypoplasia/aplasia/atrophy
  • dry/squaly skin/exfoliation
  • telangiectasiae of the skin
  • skin/cutaneous neoplasm/tumor/carcinoma/cancer (excluding melanoma)

HPO human phenotypes related to Xeroderma Pigmentosum, Variant Type:

(show all 61)
id Description Frequency HPO Source Accession
1 cutaneous photosensitivity hallmark (90%) HP:0000992
2 poikiloderma hallmark (90%) HP:0001029
3 freckling hallmark (90%) HP:0001480
4 verrucae hallmark (90%) HP:0200043
5 abnormality of the teeth hallmark (90%) HP:0000164
6 conjunctival telangiectasia hallmark (90%) HP:0000524
7 optic atrophy hallmark (90%) HP:0000648
8 dry skin hallmark (90%) HP:0000958
9 thin skin hallmark (90%) HP:0000963
10 eeg abnormality hallmark (90%) HP:0002353
11 developmental regression hallmark (90%) HP:0002376
12 arthralgia hallmark (90%) HP:0002829
13 abnormality of temperature regulation hallmark (90%) HP:0004370
14 cognitive impairment hallmark (90%) HP:0100543
15 teleangiectasia of the skin hallmark (90%) HP:0100585
16 dry skin typical (50%) HP:0000958
17 aplasia/hypoplasia of the skin typical (50%) HP:0008065
18 teleangiectasia of the skin typical (50%) HP:0100585
19 cryptorchidism typical (50%) HP:0000028
20 sensorineural hearing impairment typical (50%) HP:0000407
21 strabismus typical (50%) HP:0000486
22 cataract typical (50%) HP:0000518
23 hyperkeratosis typical (50%) HP:0000962
24 hypermelanotic macule typical (50%) HP:0001034
25 hypopigmented skin patches typical (50%) HP:0001053
26 melanoma typical (50%) HP:0002861
27 verrucae typical (50%) HP:0200043
28 microcephaly occasional (7.5%) HP:0000252
29 blepharitis occasional (7.5%) HP:0000498
30 photophobia occasional (7.5%) HP:0000613
31 melanocytic nevus occasional (7.5%) HP:0000995
32 pterygium occasional (7.5%) HP:0001059
33 seizures occasional (7.5%) HP:0001250
34 hypertonia occasional (7.5%) HP:0001276
35 reduced tendon reflexes occasional (7.5%) HP:0001315
36 alopecia occasional (7.5%) HP:0001596
37 abnormality of extrapyramidal motor function occasional (7.5%) HP:0002071
38 cerebral cortical atrophy occasional (7.5%) HP:0002120
39 incoordination occasional (7.5%) HP:0002311
40 delayed skeletal maturation occasional (7.5%) HP:0002750
41 aminoaciduria occasional (7.5%) HP:0003355
42 short stature occasional (7.5%) HP:0004322
43 craniofacial hyperostosis occasional (7.5%) HP:0004493
44 opacification of the corneal stroma occasional (7.5%) HP:0007759
45 abnormality of the palpebral fissures occasional (7.5%) HP:0008050
46 peripheral neuropathy occasional (7.5%) HP:0009830
47 neoplasm of the eye occasional (7.5%) HP:0100012
48 neoplasm of the oral cavity occasional (7.5%) HP:0100649
49 autosomal recessive inheritance HP:0000007
50 keratitis HP:0000491
51 conjunctivitis HP:0000509
52 photophobia HP:0000613
53 entropion HP:0000621
54 ectropion HP:0000656
55 cutaneous photosensitivity HP:0000992
56 telangiectasia HP:0001009
57 poikiloderma HP:0001029
58 basal cell carcinoma HP:0002671
59 squamous cell carcinoma HP:0002860
60 dermal atrophy HP:0004334
61 cutaneous melanoma HP:0012056

Drugs & Therapeutics for Xeroderma Pigmentosum, Variant Type

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Drug clinical trials:

Search ClinicalTrials for Xeroderma Pigmentosum, Variant Type

Search NIH Clinical Center for Xeroderma Pigmentosum, Variant Type

Genetic Tests for Xeroderma Pigmentosum, Variant Type

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Genetic tests related to Xeroderma Pigmentosum, Variant Type:

id Genetic test Affiliating Genes
1 Xeroderma Pigmentosum20 22 XPC
2 Xeroderma Pigmentosum Multi-Gene Panels20
3 Xeroderma Pigmentosum, Variant Type22

Anatomical Context for Xeroderma Pigmentosum, Variant Type

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MalaCards organs/tissues related to Xeroderma Pigmentosum, Variant Type:

Skin, Eye

Animal Models for Xeroderma Pigmentosum, Variant Type or affiliated genes

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MGI Mouse Phenotypes related to Xeroderma Pigmentosum, Variant Type:

idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107718.5ERCC6, XPC, POLH
2MP:00020068.2ERCC6, XPC, POLH

Publications for Xeroderma Pigmentosum, Variant Type

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Articles related to Xeroderma Pigmentosum, Variant Type:

Three school-age cases of xeroderma pigmentosum variant type. (23651273)
Identification of a novel nonsense mutation in POLH in a Chinese pedigree with xeroderma pigmentosum, variant type. (23630442)
Four types of possible founder mutations are responsible for 87% of Japanese patients with Xeroderma pigmentosum variant type. (18703314)
Molecular analysis of DNA polymerase eta gene in Japanese patients diagnosed as xeroderma pigmentosum variant type. (17344931)

Variations for Xeroderma Pigmentosum, Variant Type

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UniProtKB/Swiss-Prot genetic disease variations for Xeroderma Pigmentosum, Variant Type:

id Symbol AA change Variation ID SNP ID

Clinvar genetic disease variations for Xeroderma Pigmentosum, Variant Type:

5 (show all 13)
id Gene Variation Type Significance SNP ID Assembly Location
1ERCC6NM_000124.3(ERCC6): c.2203C> T (p.Arg735Ter)single nucleotide variantPathogenicrs121917901GRCh37Chr 10, 50686483: 50686483
2POLHPOLH, 13-BP DEL, NT343deletionPathogenic
3POLHPOLH, 4-BP DEL, NT289deletionPathogenic
4POLHPOLH, 2-BP DEL, NT770deletionPathogenic
5POLHNM_006502.2(POLH): c.916G> T (p.Glu306Ter)single nucleotide variantPathogenicrs121908562GRCh37Chr 6, 43572383: 43572383
6POLHPOLH, DEL AND TRP297TERdeletionPathogenic
7POLHNM_006502.2(POLH): c.376C> T (p.Gln126Ter)single nucleotide variantPathogenicrs121908563GRCh37Chr 6, 43555112: 43555112
8POLHNM_006502.2(POLH): c.1117C> T (p.Gln373Ter)single nucleotide variantPathogenicrs121908564GRCh37Chr 6, 43578333: 43578333
9POLHPOLH, 104-BP DEL, NT661deletionPathogenic
10POLHPOLH, 1-BP DEL, 207GdeletionPathogenic
11POLHPOLH, 3-BP DEL, NT222deletionPathogenic
12POLHNM_006502.2(POLH): c.1603A> G (p.Lys535Glu)single nucleotide variantPathogenicrs56307355GRCh37Chr 6, 43581755: 43581755
13POLHNM_006502.2(POLH): c.1766A> C (p.Lys589Thr)single nucleotide variantPathogenicrs121908565GRCh37Chr 6, 43581918: 43581918

Cosmic variations for Xeroderma Pigmentosum, Variant Type:

6 (show all 82)
id Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
144310TP53skin,NS,carcinoma,basal cell carcinoma3
244925TP53skin,NS,carcinoma,basal cell carcinoma3
343842TP53skin,NS,carcinoma,basal cell carcinoma3
410660TP53skin,NS,carcinoma,basal cell carcinoma3
510704TP53skin,NS,carcinoma,basal cell carcinoma3
644167TP53skin,NS,carcinoma,basal cell carcinoma3
743665TP53skin,NS,carcinoma,basal cell carcinoma3
844071TP53skin,NS,carcinoma,basal cell carcinoma3
943702TP53skin,NS,carcinoma,basal cell carcinoma3
1010771TP53skin,NS,carcinoma,basal cell carcinoma3
1145015TP53skin,NS,carcinoma,basal cell carcinoma3
1245740TP53skin,NS,carcinoma,basal cell carcinoma3
1343586TP53skin,eye,carcinoma,squamous cell carcinoma3
1444074TP53skin,NS,carcinoma,basal cell carcinoma3
1543583TP53skin,eye,carcinoma,basal cell carcinoma3
1644096TP53skin,NS,carcinoma,basal cell carcinoma3
1744606TP53skin,NS,carcinoma,basal cell carcinoma3
1843608TP53skin,NS,carcinoma,basal cell carcinoma3
1943616TP53skin,NS,carcinoma,basal cell carcinoma3
2043635TP53skin,NS,carcinoma,basal cell carcinoma3
2110648TP53skin,NS,carcinoma,basal cell carcinoma3
2243700TP53skin,NS,carcinoma,basal cell carcinoma3
2343585TP53skin,NS,carcinoma,basal cell carcinoma3
2443592TP53skin,NS,carcinoma,basal cell carcinoma3
2543577TP53skin,NS,carcinoma,basal cell carcinoma3
2610812TP53skin,NS,carcinoma,basal cell carcinoma3
2710656TP53skin,NS,carcinoma,basal cell carcinoma3
2844603TP53skin,NS,carcinoma,basal cell carcinoma3
2945420TP53skin,NS,carcinoma,basal cell carcinoma3
3044126TP53skin,eye,carcinoma,basal cell carcinoma3
3144226TP53skin,NS,carcinoma,basal cell carcinoma3
326932TP53skin,NS,carcinoma,basal cell carcinoma3
3345739TP53skin,NS,carcinoma,basal cell carcinoma3
3443582TP53skin,NS,carcinoma,basal cell carcinoma3
3545444TP53skin,eye,carcinoma,squamous cell carcinoma3
3610659TP53skin,NS,carcinoma,basal cell carcinoma3
3743584TP53skin,NS,carcinoma,basal cell carcinoma3
3810768TP53skin,NS,carcinoma,basal cell carcinoma3
3943581TP53skin,NS,carcinoma,basal cell carcinoma3
4044097TP53skin,NS,carcinoma,basal cell carcinoma3
4110749TP53skin,NS,carcinoma,basal cell carcinoma3
4210988TP53skin,NS,carcinoma,basal cell carcinoma3
4344068TP53skin,NS,carcinoma,basal cell carcinoma3
446549TP53skin,NS,carcinoma,basal cell carcinoma3
4545424TP53skin,NS,carcinoma,basal cell carcinoma3
4610650TP53skin,NS,carcinoma,basal cell carcinoma3
4745423TP53skin,NS,carcinoma,basal cell carcinoma3
4810662TP53skin,NS,carcinoma,basal cell carcinoma3
4910794TP53skin,NS,carcinoma,basal cell carcinoma3
5043837TP53skin,NS,carcinoma,basal cell carcinoma3
5110867TP53skin,NS,carcinoma,basal cell carcinoma3
5296963PTCH1skin,NS,carcinoma,basal cell carcinoma3
5324851PTCH1skin,NS,carcinoma,basal cell carcinoma3
5429349PTCH1skin,NS,carcinoma,basal cell carcinoma3
5517547PTCH1skin,NS,carcinoma,basal cell carcinoma3
5617454PTCH1skin,NS,carcinoma,basal cell carcinoma3
5717434PTCH1skin,NS,carcinoma,basal cell carcinoma3
5829348PTCH1skin,NS,carcinoma,basal cell carcinoma3
5917481PTCH1skin,NS,carcinoma,basal cell carcinoma3
6017592PTCH1skin,NS,carcinoma,basal cell carcinoma3
6196960PTCH1skin,NS,carcinoma,basal cell carcinoma3
6296959PTCH1skin,NS,carcinoma,basal cell carcinoma3
6326361PTCH1skin,NS,carcinoma,basal cell carcinoma3
6496957PTCH1skin,NS,carcinoma,basal cell carcinoma3
6596958PTCH1skin,NS,carcinoma,basal cell carcinoma3
6626365PTCH1skin,NS,carcinoma,basal cell carcinoma3
671651688PTCH1skin,NS,carcinoma,basal cell carcinoma3
6826372PTCH1skin,NS,carcinoma,basal cell carcinoma3
69483HRASskin,NS,carcinoma,basal cell carcinoma3
70490HRASskin,NS,carcinoma,basal cell carcinoma3
71486HRASskin,NS,carcinoma,basal cell carcinoma3
7228048NRASskin,upper extremity,malignant melanoma,NS3
7336378NRASskin,upper extremity,malignant melanoma,NS3
7428049NRASskin,upper extremity,malignant melanoma,NS3
7548298CDKN2Askin,upper extremity,malignant melanoma,NS3
7612476CDKN2Askin,NS,carcinoma,basal cell carcinoma3
771131BRAFskin,upper extremity,malignant melanoma,NS3
78476BRAFskin,upper extremity,malignant melanoma,NS3
795662CTNNB1skin,NS,carcinoma,basal cell carcinoma3
80553KRASskin,NS,carcinoma,basal cell carcinoma3
8113146SMOskin,NS,carcinoma,basal cell carcinoma3
8252969GNA11skin,eye,malignant melanoma,NS3

Expression for genes affiliated with Xeroderma Pigmentosum, Variant Type

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Search GEO for disease gene expression data for Xeroderma Pigmentosum, Variant Type.

Pathways for genes affiliated with Xeroderma Pigmentosum, Variant Type

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Compounds for genes affiliated with Xeroderma Pigmentosum, Variant Type

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Compounds related to Xeroderma Pigmentosum, Variant Type according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1cisplatin44 50 60 1112.3XPC, POLH

GO Terms for genes affiliated with Xeroderma Pigmentosum, Variant Type

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Cellular components related to Xeroderma Pigmentosum, Variant Type according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1nucleoplasmGO:00056548.5ERCC6, XPC, POLH

Biological processes related to Xeroderma Pigmentosum, Variant Type according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1nucleotide-excision repairGO:00062899.1ERCC6, XPC
2pyrimidine dimer repairGO:00062909.0ERCC6, POLH
3response to UV-BGO:00102249.0ERCC6, XPC
4DNA repairGO:00062818.2ERCC6, XPC, POLH

Molecular functions related to Xeroderma Pigmentosum, Variant Type according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1damaged DNA bindingGO:00036849.3XPC, POLH

Sources for Xeroderma Pigmentosum, Variant Type

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26ICD10 via Orphanet
34MESH via Orphanet
47OMIM via Orphanet
57SNOMED-CT via Orphanet
62UMLS via Orphanet